Canonical Allele Identifier: CA2429816148

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378085_53378091delinsGATAACA , CM000685.2:g.53378085_53378091delinsGATAACA	GRCh38
NC_000023.10:g.53405006_53405012delinsGATAACA , CM000685.1:g.53405006_53405012delinsGATAACA	GRCh37
NC_000023.9:g.53421731_53421737delinsGATAACA	NCBI36
NG_006988.2:g.49580_49586delinsTGTTATC , LRG_773:g.49580_49586delinsTGTTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*2012_*2018delinsTGTTATC MANE Select	ENSP00000323421.3:n.*2012_*2018delinsTGTTATC
ENST00000675504.1:c.*2012_*2018delinsTGTTATC	ENSP00000502524.1:n.*2012_*2018delinsTGTTATC
ENST00000322213.8:c.*2012_*2018delinsTGTTATC	ENSP00000323421.3:n.*2012_*2018delinsTGTTATC
ENST00000375340.10:c.*2012_*2018delinsTGTTATC	ENSP00000364489.7:n.*2012_*2018delinsTGTTATC
NM_001281463.1:c.*2012_*2018delinsTGTTATC , LRG_773t1:c.*2012_*2018delinsTGTTATC	NP_001268392.1:n.*2012_*2018delinsTGTTATC
NM_006306.3:c.*2012_*2018delinsTGTTATC , LRG_773t2:c.*2012_*2018delinsTGTTATC	NP_006297.2:n.*2012_*2018delinsTGTTATC
NM_006306.4:c.*2012_*2018delinsTGTTATC MANE Select	NP_006297.2:n.*2012_*2018delinsTGTTATC